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Aliases for BAZ1B Gene

Aliases for BAZ1B Gene

  • Bromodomain Adjacent To Zinc Finger Domain 1B 2 3 5
  • Williams-Beuren Syndrome Chromosomal Region 10 Protein 3 4
  • Williams-Beuren Syndrome Chromosomal Region 9 Protein 3 4
  • Williams Syndrome Transcription Factor 3 4
  • Transcription Factor WSTF 2 3
  • EC 2.7.10.2 4 63
  • WBSCR10 3 4
  • WBSCR9 3 4
  • HWALp2 3 4
  • WSTF 3 4
  • Bromodomain Adjacent To Zinc Finger Domain Protein 1B 4
  • Bromodomain Adjacent To Zinc Finger Domain, 1B 3
  • Williams-Beuren Syndrome Chromosome Region 10 2
  • Williams-Beuren Syndrome Chromosome Region 9 2
  • WBSC10 4

External Ids for BAZ1B Gene

Previous HGNC Symbols for BAZ1B Gene

  • WBSCR9
  • WBSCR10

Previous GeneCards Identifiers for BAZ1B Gene

  • GC07M071495
  • GC07M072253
  • GC07M072266
  • GC07M072299
  • GC07M072492
  • GC07M072854
  • GC07M068737

Summaries for BAZ1B Gene

Entrez Gene Summary for BAZ1B Gene

  • This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]

GeneCards Summary for BAZ1B Gene

BAZ1B (Bromodomain Adjacent To Zinc Finger Domain 1B) is a Protein Coding gene. Diseases associated with BAZ1B include williams-beuren syndrome and chromosomal deletion syndrome. Among its related pathways are Gene Expression and DNA Double-Strand Break Repair. GO annotations related to this gene include protein tyrosine kinase activity and binding. An important paralog of this gene is KAT2A.

UniProtKB/Swiss-Prot for BAZ1B Gene

  • Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator. Involved in DNA damage response by phosphorylating Tyr-142 of histone H2AX (H2AXY142ph). H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at Tyr-142, and is involved in the maintenance of chromatin structures during DNA replication processes. In the complex, it mediates the recruitment of the WICH complex to replication foci during DNA replication.

Gene Wiki entry for BAZ1B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAZ1B Gene

Genomics for BAZ1B Gene

Regulatory Elements for BAZ1B Gene

Promoters for BAZ1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BAZ1B on UCSC Golden Path with GeneCards custom track

Genomic Location for BAZ1B Gene

Chromosome:
7
Start:
73,440,398 bp from pter
End:
73,522,298 bp from pter
Size:
81,901 bases
Orientation:
Minus strand

Genomic View for BAZ1B Gene

Genes around BAZ1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAZ1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAZ1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAZ1B Gene

Proteins for BAZ1B Gene

  • Protein details for BAZ1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UIG0-BAZ1B_HUMAN
    Recommended name:
    Tyrosine-protein kinase BAZ1B
    Protein Accession:
    Q9UIG0
    Secondary Accessions:
    • B9EGK3
    • D3DXE9
    • O95039
    • O95247
    • O95277
    • Q6P1K4
    • Q86UJ6

    Protein attributes for BAZ1B Gene

    Size:
    1483 amino acids
    Molecular mass:
    170903 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with MYO1C (By similarity). Interacts with CDT1. Interacts with SMARCA5/SNF2H; the interaction is direct and forms the WICH complex. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Interacts with VDR; in a ligand-dependent manner. Interacts with PCNA; the interaction is direct.
    SequenceCaution:
    • Sequence=AAC97879.1; Type=Frameshift; Positions=1031, 1042, 1422; Evidence={ECO:0000305}; Sequence=AAD04720.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAH65029.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA89210.1; Type=Frameshift; Positions=1478; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BAZ1B Gene

    Alternative splice isoforms for BAZ1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BAZ1B Gene

Proteomics data for BAZ1B Gene at MOPED

Post-translational modifications for BAZ1B Gene

  • Ubiquitination at Lys 297, Lys 778, and Lys 1068
  • Modification sites at PhosphoSitePlus

Other Protein References for BAZ1B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BAZ1B (WSTF)

Domains & Families for BAZ1B Gene

Gene Families for BAZ1B Gene

Suggested Antigen Peptide Sequences for BAZ1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UIG0

UniProtKB/Swiss-Prot:

BAZ1B_HUMAN :
  • The N-terminal part (1-345), including the WAC domain and the C motif, mediates the tyrosine-protein kinase activity.
  • Belongs to the WAL family. BAZ1B subfamily.
  • Contains 1 PHD-type zinc finger.
Domain:
  • The N-terminal part (1-345), including the WAC domain and the C motif, mediates the tyrosine-protein kinase activity.
  • The bromo domain mediates the specific interaction with acetylated histones.
  • Contains 1 bromo domain.
  • Contains 1 DDT domain.
  • Contains 1 WAC domain.
Family:
  • Belongs to the WAL family. BAZ1B subfamily.
Similarity:
  • Contains 1 PHD-type zinc finger.
genes like me logo Genes that share domains with BAZ1B: view

Function for BAZ1B Gene

Molecular function for BAZ1B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot Function:
Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator. Involved in DNA damage response by phosphorylating Tyr-142 of histone H2AX (H2AXY142ph). H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at Tyr-142, and is involved in the maintenance of chromatin structures during DNA replication processes. In the complex, it mediates the recruitment of the WICH complex to replication foci during DNA replication.

Enzyme Numbers (IUBMB) for BAZ1B Gene

Gene Ontology (GO) - Molecular Function for BAZ1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA --
GO:0004713 protein tyrosine kinase activity IDA 19092802
GO:0005515 protein binding IEA,IPI 11980720
genes like me logo Genes that share ontologies with BAZ1B: view
genes like me logo Genes that share phenotypes with BAZ1B: view

Human Phenotype Ontology for BAZ1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BAZ1B Gene

MGI Knock Outs for BAZ1B:

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targets and HOMER Transcription for BAZ1B Gene

Localization for BAZ1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAZ1B Gene

Nucleus. Note=Accumulates in pericentromeric heterochromatin during replication. Targeted to replication foci throughout S phase via its association with PCNA.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BAZ1B Gene COMPARTMENTS Subcellular localization image for BAZ1B gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for BAZ1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with BAZ1B: view

Pathways & Interactions for BAZ1B Gene

genes like me logo Genes that share pathways with BAZ1B: view

SIGNOR curated interactions for BAZ1B Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for BAZ1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003007 heart morphogenesis ISS --
GO:0006333 chromatin assembly or disassembly IEA --
GO:0006351 transcription, DNA-templated NAS 10662543
GO:2000273 positive regulation of receptor activity IEA --
genes like me logo Genes that share ontologies with BAZ1B: view

Drugs & Compounds for BAZ1B Gene

(1) Drugs for BAZ1B Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with BAZ1B: view

Transcripts for BAZ1B Gene

Unigene Clusters for BAZ1B Gene

Bromodomain adjacent to zinc finger domain, 1B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BAZ1B Gene

No ASD Table

Relevant External Links for BAZ1B Gene

GeneLoc Exon Structure for
BAZ1B
ECgene alternative splicing isoforms for
BAZ1B

Expression for BAZ1B Gene

mRNA expression in normal human tissues for BAZ1B Gene

Protein differential expression in normal tissues from HIPED for BAZ1B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.6), Urine (12.6), and Seminal vesicle (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BAZ1B Gene



SOURCE GeneReport for Unigene cluster for BAZ1B Gene Hs.743372

mRNA Expression by UniProt/SwissProt for BAZ1B Gene

Q9UIG0-BAZ1B_HUMAN
Tissue specificity: Ubiquitously expressed with high levels of expression in heart, brain, placenta, skeletal muscle and ovary.
genes like me logo Genes that share expression patterns with BAZ1B: view

Protein tissue co-expression partners for BAZ1B Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BAZ1B Gene

Orthologs for BAZ1B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BAZ1B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BAZ1B 35
  • 89.97 (n)
  • 95.41 (a)
BAZ1B 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BAZ1B 35
  • 91.5 (n)
  • 95.88 (a)
BAZ1B 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Baz1b 35
  • 87.01 (n)
  • 91.67 (a)
Baz1b 16
Baz1b 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BAZ1B 35
  • 99.69 (n)
  • 99.66 (a)
BAZ1B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Baz1b 35
  • 86.24 (n)
  • 92.41 (a)
oppossum
(Monodelphis domestica)
Mammalia BAZ1B 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BAZ1B 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves BAZ1B 35
  • 75.64 (n)
  • 81.07 (a)
BAZ1B 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BAZ1B 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia baz1b 35
  • 67.14 (n)
  • 72.17 (a)
Str.6337 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398269 35
zebrafish
(Danio rerio)
Actinopterygii baz1b 35
  • 63.3 (n)
  • 64.34 (a)
Dr.19594 35
baz1b 36
  • 51 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea pcaf-1 36
  • 13 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCN5 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 18 (a)
OneToOne
Species with no ortholog for BAZ1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BAZ1B Gene

ENSEMBL:
Gene Tree for BAZ1B (if available)
TreeFam:
Gene Tree for BAZ1B (if available)

Paralogs for BAZ1B Gene

Paralogs for BAZ1B Gene

genes like me logo Genes that share paralogs with BAZ1B: view

Variants for BAZ1B Gene

Sequence variations from dbSNP and Humsavar for BAZ1B Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs714052 -- 73,450,539(-) ATCCT(C/T)TGATT intron-variant
rs811328 -- 73,460,194(-) ttttt(C/T)tccct intron-variant
rs799211 -- 73,452,508(-) ctgac(C/T)ttgtg intron-variant
rs799212 -- 73,452,462(-) atagg(C/T)gtgag intron-variant
rs799213 -- 73,448,826(-) ATAAC(A/G)TCCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BAZ1B Gene

Variant ID Type Subtype PubMed ID
dgv2095e1 CNV Complex 17122850
dgv2099e1 CNV Complex 17122850
nsv888362 CNV Gain 21882294
nsv831027 CNV Loss 17160897
dgv7324n71 CNV Gain 21882294
esv2677299 CNV Deletion 23128226
dgv7325n71 CNV Loss 21882294

Variation tolerance for BAZ1B Gene

Residual Variation Intolerance Score: 2.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.03; 37.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BAZ1B Gene

HapMap Linkage Disequilibrium report
BAZ1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAZ1B Gene

Disorders for BAZ1B Gene

MalaCards: The human disease database

(2) MalaCards diseases for BAZ1B Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
chromosomal deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search BAZ1B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BAZ1B_HUMAN
  • Note=BAZ1B is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BAZ1B may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Relevant External Links for BAZ1B

Genetic Association Database (GAD)
BAZ1B
Human Genome Epidemiology (HuGE) Navigator
BAZ1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BAZ1B
genes like me logo Genes that share disorders with BAZ1B: view

No data available for Genatlas for BAZ1B Gene

Publications for BAZ1B Gene

  1. A novel human gene, WSTF, is deleted in Williams Syndrome. (PMID: 9828126) Lu X. … Keating M.T. (Genomics 1998) 2 3 4 23 67
  2. Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. (PMID: 9858827) Peoples R.J. … Francke U. (Cytogenet. Cell Genet. 1998) 2 3 23
  3. The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription. (PMID: 16603771) Cavellan E. … Oestlund Farrants A.-K. (J. Biol. Chem. 2006) 3 23
  4. The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci. (PMID: 15543136) Poot R.A. … Varga-Weisz P.D. (Nat. Cell Biol. 2004) 3 23
  5. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3

Products for BAZ1B Gene

Sources for BAZ1B Gene

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